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S Sacconi

Showing results (11-20 of 31) with videos related to

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Annals of Physical and Rehabilitation Medicine|April 6, 2012
Pain assessment in Charcot-Marie-Tooth (CMT) diseaseC Ribiere, M Bernardin, S Sacconi, et al.
Revue Neurologique|May 29, 2024
Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 surveyS Vicart, Y Péréon, K Ghorab, et al.
Clinical Biomechanics (Bristol, Avon)|February 4, 2023
The effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophyC N Gambelli, J Bredin, A-C M Doix, et al.
Gene Therapy|June 24, 2005
Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patientsJ-T Vilquin, J-P Marolleau, S Sacconi, et al.
American Journal of Physiology. Cell Physiology|July 3, 2009
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubesS Sacconi, D Simkin, N Arrighi, et al.
Clinical Genetics|November 25, 2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.
European Journal of Neurology|May 1, 2013
EFNS review on the role of muscle biopsy in the investigation of myalgiaT Kyriakides, C Angelini, J Schaefer, et al.
Neurology|August 24, 2005
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive conditionL Salviati, S Sacconi, L Murer, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiencyC P Venditti, M C Harris, D Huff, et al.
European Journal of Neurology|January 31, 2026
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemiaT Kyriakides, K Aleksovska, C Angelini, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Annals of Physical and Rehabilitation Medicine|April 6, 2012
Pain assessment in Charcot-Marie-Tooth (CMT) diseaseC Ribiere, M Bernardin, S Sacconi, et al.
Revue Neurologique|May 29, 2024
Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 surveyS Vicart, Y Péréon, K Ghorab, et al.
Clinical Biomechanics (Bristol, Avon)|February 4, 2023
The effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophyC N Gambelli, J Bredin, A-C M Doix, et al.
Gene Therapy|June 24, 2005
Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patientsJ-T Vilquin, J-P Marolleau, S Sacconi, et al.
American Journal of Physiology. Cell Physiology|July 3, 2009
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubesS Sacconi, D Simkin, N Arrighi, et al.
Clinical Genetics|November 25, 2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.
European Journal of Neurology|May 1, 2013
EFNS review on the role of muscle biopsy in the investigation of myalgiaT Kyriakides, C Angelini, J Schaefer, et al.
Neurology|August 24, 2005
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive conditionL Salviati, S Sacconi, L Murer, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiencyC P Venditti, M C Harris, D Huff, et al.
European Journal of Neurology|January 31, 2026
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemiaT Kyriakides, K Aleksovska, C Angelini, et al.
Pageof 4